A “toolkit” for academic faculty was developed, launched disseminated in February 2010 and can be accessed at www.g-2-c-2.com. As the toolkit is developed and disseminated, we are also working to establish an interdisciplinary consortium because achieving competency in genetics and genomics is an issue for all members of the health care community. In the next year we will be working with the American Academy of Nursing to hold meetings that will help to establish a national nursing research outcomes agenda for genetic and genomic nursing.

Our vision for all nurses is (1) that they become fluent in genetics and genomics so that they can communicate with their patients, families, and communities, and (2) that they competently use genetic and genomic information to develop personalized plans to improve health care outcomes. Nurses are the keystone of the health care community and, as such, are fundamental to closing the gap between patients and the genetic and genomic discoveries that could optimize their health care.

Introduction: Why Genetics and Genomics?

The human genome was completely mapped and sequenced in 2003. Discoveries from this human genome research are increasing our understanding of the role genes play in health and both rare and common diseases. A new era of health care—called genomic health care—is rapidly advancing. Genomic health care means that health care providers now have accessible new tools for tailoring health care to the individual by using a person’s unique genomic information to design and prescribe the most effective treatment for each patient. These advances are ushering in new directions in the provision of health care and will have a significant impact on nurses and all other health care providers. Nurses in all practice settings will increasingly be expected to use genetic- and genomic-based approaches and technologies in their patient care. In recognition of the implications of genomic health care for nurses, the Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guideline, and Outcome Indicators (Consensus Panel on Genetic/Genomic Nursing Competencies, 2008) was published. This chapter is founded on the Essentials of Genetic and Genomic Nursing and presents genetic and genomic discoveries and applications from yesterday to today, as well as for tomorrow. Applications of genetics and genomics to nursing and health care will be addressed, including family history assessment, genetic screening and testing, pharmacogenetics and pharmacogenomics, and direct-to-consumer (DTC) genetic testing. Ethical and social issues related to genetics and genomics will also be described. Genetics and genomics educational and clinical resources are provided to support the needs of all nurses wanting to learn more about and provide competent genomic health care. As noted in the Essentials of Genetic and Genomic Nursing,

Because essentially all diseases and conditions have a genetic or genomic component, options for care for all persons will increasingly include genetic and genomic information along the pathways of prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness. The clinical application of genetic and genomic knowledge has major implications for the entire nursing profession regardless of academic preparation, role or practice setting. (Consensus Panel, 2008, p. 7)

Box 16-1 provides a listing of basic genetic terms and their definitions as a beginning step for nurses to become familiar with and knowledgeable about genetics and genomics.

BOX 16-1 Common Genetic and Genomic Terms

Allele—One of the variant forms of a gene at a particular location on a chromosome. Different alleles create variation in inherited characteristics such as hair color or blood type.

Chromosome—One of the threadlike “packages” of genes and other DNA that are located in the nucleus of a cell. Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and 2 sex chromosomes. Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers.

Deoxyribonucleic acid (DNA)—The chemical inside the nucleus of a cell that carries genetic instructions for making living organisms.

Double helix—The structural arrangement of DNA, which looks something like an immensely long ladder twisted into a helix, or coil. The sides of the “ladder” are formed by a backbone of sugar and phosphate molecules, and the “rungs” consist of nucleotide bases joined weakly in the middle by hydrogen bonds.

Gene—The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.

Genetics—A term that refers to the study of genes and their role in inheritance; the way certain traits or conditions are passed down from one generation to another.

Genomics—A relatively new term that describes the study of all of a person’s genes, including interactions of those genes with one another and with the person’s environment.

Genetic disorders—A disease caused in whole or in part by a “variation” (a different form) or “mutation” (alteration) of a gene.

Mendelian inheritance—The way in which genes and traits are passed from parents to children. Examples of Mendelian inheritance include autosomal dominant, autosomal recessive, and sex-linked genes.

Protein—A large complex molecule consisting of one or more chains of amino acids. Proteins perform a wide variety of activities in the cell.

Ribonucleic acid (RNA)—A chemical similar to a single strand of DNA. In RNA, the letter U, which stands for “uracil” is substituted for T in the genetic code. RNA delivers DNA’s genetic message to the cytoplasm of a cell, where proteins are made.

(Data from National Human Genome Research Institute [2009b]. Genetics and Genomics for Patients and the Public. Retrieved from www.genome.gov/19016903; and National Human Genome Research Institute [2009f]. Talking Glossary of Genetic Terms. Retrieved from www.genome.gov/glossary).

YESTERDAY’S GENETICS

It was not until the late 1800s that scientists first began to discover the basic genetic structures—chromosomes—the threadlike structures inside of cells that contain genes. And it was not until the early 1900s that inherited diseases were linked to chromosomes. Scientific research and discoveries from the 1950s through the 1980s helped scientists to develop genetic tests for genetic conditions such as Down syndrome, cystic fibrosis, and Duchenne muscular dystrophy. During those years, genetic testing was used to confirm a diagnosis of a genetic condition and to screen newborns for conditions such as phenylketonuria (PKU) so that early treatments and interventions could be administered (National Institutes of Health, 2009). Nurses practicing in neonatal and pediatric settings were therefore the first nurses to become informed about and involved with genetics in their practice with the advent of genetic testing for newborns and pediatric patients and their families. But were those nurses prepared with genetics knowledge so that they could provide competent and informed patient care? Not necessarily. The recognition that nurses did not have adequate knowledge of genetics to practice genetics health care was first documented in the nursing literature of 1979 (Cohen, 1979).

TODAY’S GENETICS AND GENOMICS

Mapping and sequencing of the entire human genome was completed in 2003, after 15 years of research. Knowledge of the human genome has opened new doors to understanding the role of genes in health and disease. As an example, genetic discoveries have led to the development of an increasing number of genetic tests that can be used to identify a trait, diagnose a genetic disorder, and/or identify individuals who have a genetic predisposition to diseases, such as cancer or heart disease. Our understanding of genes and their roles in health and disease has expanded beyond genetics, which involves the study of individual genes and their impact on relatively rare, single-gene disorders. A new field of research called genomics involves the study of all of the genes in the human genome together, including their interactions with one another, their interactions with the environment, and the influence of other cultural and psychosocial factors (Consensus Panel, 2008; Guttmacher & Collins, 2002). In the pre-genome era, health care providers used a “one size fits all” approach to treating their patients. In the post-genome era, health care providers will increasingly use genomic information to tailor treatments to the individual patient and to personalize their care (National Human Genome Research Institute, 2009c).

Genetics and genomics are therefore becoming an integral part of health care for patients from preconception to adulthood. Patients, families, and communities will increasingly expect all registered nurses and nurse specialists to be familiar with and use genetic and genomic information and technologies when providing care (Consensus Panel, 2008). Nurses at all levels and in all areas of practice will soon be taking an active role in risk assessment for genetic conditions and disorders, explaining genetic risk and genetic testing, and supporting informed health decisions and opportunities for early intervention (Skirton, Patch, & Williams, 2005).

Essentials of Genetic and Genomic Nursing

In recognition of the need for all nurses to become proficient in incorporating genetics and genomics into their practice, nursing leaders from clinical, research, and academic settings came together to create “the minimum basis by which to prepare the nursing workforce to deliver competent genetic- and genomic-focused nursing care” (Consensus Panel, 2008, p. 1). The Essentials of Genetic and Genomic Nursing was developed based on several sources and resources, including (1) review of peer-reviewed published work that has reported practice-based genetic and genomic competencies, guidelines, and recommendations; (2) input from nurses who were representatives to the National Coalition for Health Professional Education in Genetics (NCHPEG) in 2005; (3) public comment from the nursing community at large; and (4) statements during open comment periods from the nurses who attended a 2-day meeting of key stakeholders held in September 2005. The Essentials of Genetic and Genomic Nursing that were developed apply to the practice of all registered nurses regardless of their academic preparation, practice setting, role, or specialty. To date, more than 49 nursing organizations have endorsed the Essentials of Genetic and Genomic Nursing (Consensus Panel, 2008).

The Essentials of Genetic and Genomic Nursing is broken down into two categories: professional responsibilities and professional practice domain. The professional responsibilities are consistent with the nursing scope and standards of practice that were developed by the American Nurses Association (American Nurses Association, 2004). They include the incorporation of genetic and genomic technologies and information into registered nursing practice and the ability to tailor genetic and genomic information and services to clients based on their knowledge level, literacy, culture, religion, and preferred language. The professional practice domain includes the following: competencies in nursing assessment (applying and integrating genetic and genomic knowledge); identification of clients who could benefit from genetic and genomic information and services as well as reliable genetic and genomic resources; referral activities; and provision of education, care, and support, such as using genetic- and genomic-based interventions and information to improve client outcomes (Consensus Panel, 2008).

The Essentials of Genetic and Genomic Nursing document includes strategies to implement the competencies into nursing practice. These strategies include participating in the NCLEX test development process and working with the American Hospital Association and other regulatory agencies to incorporate genetics and genomics practice content. Another strategy is to have all certification exams include test items that measure the knowledge of genetic and genomic information specific to the specialty for which nurses are being certified. Practicing nurses are encouraged to pursue genetic and genomic continuing education. Accreditation programs are encouraged to evaluate whether the curriculum they are creating is designed to meet the essential nursing core genetic and genomic competencies. Nursing faculty members are given ideas and solutions regarding how they can incorporate genetics and genomics as a central science into their curricula. Resources to support the Essentials of Genetic and Genomic Nursing are also provided (Consensus Panel, 2008). Box 16-2 provides examples of currently available genetics and genomics educational resources for practicing nurses and nurse educators.

BOX 16-2 Genetics and Genomics Educational Resources for Nurses